Linked Data
dbSNP Id:
rs1379950138
gnomAD v2:
10-124268121-C-G
gnomAD v3:
10-122508605-C-G
gnomAD v4:
10-122508605-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508605C>G , CM000672.2:g.122508605C>G | GRCh38 |
| NC_000010.10:g.124268121C>G , CM000672.1:g.124268121C>G | GRCh37 |
| NC_000010.9:g.124258111C>G | NCBI36 |
| NG_011554.1:g.52081C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1006-51C>G MANE Select | ENSP00000357980.3:n.1006-51C>G | |
| ENST00000648167.1:c.688-51C>G | ENSP00000498033.1:n.688-51C>G | |
| ENST00000368984.7:c.1006-51C>G | ENSP00000357980.3:n.1006-51C>G | |
| ENST00000420892.1:c.229-51C>G | ENSP00000412676.1:n.229-51C>G | |
| NM_002775.4:c.1006-51C>G | NP_002766.1:n.1006-51C>G | |
| NM_002775.5:c.1006-51C>G MANE Select | NP_002766.1:n.1006-51C>G |